Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70435956G>A , CM000672.2:g.70435956G>A | GRCh38 |
| NC_000010.10:g.72195712G>A , CM000672.1:g.72195712G>A | GRCh37 |
| NC_000010.9:g.71865718G>A | NCBI36 |
| NG_012448.1:g.10754C>T | |
| NG_012448.2:g.16993C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018055.5:c.221C>T MANE Select | NP_060525.3:p.Thr74Met |
| ENST00000287139.8:c.221C>T MANE Select | ENSP00000287139.3:p.Thr74Met |
| NM_001329906.1:c.-179C>T | NP_001316835.1:n.-179C>T |
| NM_001329906.2:c.-179C>T | NP_001316835.1:n.-179C>T |
| NM_018055.4:c.221C>T | NP_060525.3:p.Thr74Met |
| ENST00000287139.7:c.221C>T | ENSP00000287139.3:p.Thr74Met |
| ENST00000414871.1:c.56C>T | ENSP00000394468.1:p.Thr19Met |
| XM_024448028.1:c.-179C>T | XP_024303796.1:n.-179C>T |